Results 41 to 50 of about 9,431 (199)
Mucopolysaccharidosis type II: skeletal-muscle system involvement [PDF]
, 2015 Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase.
Gerson, LBP, Steiner, CE, Morini, SR
core +1 more source
Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases
Вопросы современной педиатрии, 2021 Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze +4 more
doaj +1 more source
Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation [PDF]
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Yulia V. Maximova +13 more
core +1 more source
Assessment of functional capacity of teens who are Mucopolysaccharidosis type II carriers
Cadernos Brasileiros de Terapia Ocupacional, 2017 Introduction: Mucopolysaccharidosis II (MPS II) is an X-linked genetic disease which almost exclusively affects males. The disease presents a multisystem form, caused by the progressive accumulation of glycosaminoglycans (GAGs) in tissues and organs.
Ingrid Alves Barros Silva Amaral +3 more
doaj +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]
, 2010 The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core
British Journal of Clinical Pharmacology, EarlyView.Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden +3 more
wiley +1 more source
Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]
, 2012 Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta +5 more
core
Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II
Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina +7 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Kimitoshi Nakamura +6 more
wiley +1 more source